Allele Registry

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Canonical Allele Identifier: PA915962469

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133163

ClinVar RCV Id: RCV000119660 RCV001854583 RCV003231156

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.His2204Gln	CA024617 NM_001042723.2:c.6612C>G CA405665883 NM_001042723.2:c.6612C>A